Product Details
- SNP ID
-
rs138560343
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.6:30700534 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCTTGGCTTCCTGCTTCAGCACTCC[A/G]GTCAGCAGGAACTCAGGCGAGAGGA
- Phenotype
-
MIM: 607593
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
MDC1
PubMed Links
Gene Details
- Gene
- MDC1
- Gene Name
- mediator of DNA damage checkpoint 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_014641.2 |
6227 |
Silent Mutation |
ACC,ACT |
T2067T |
NP_055456.2 |
| XM_005249492.2 |
6227 |
Silent Mutation |
ACC,ACT |
T2088T |
XP_005249549.1 |
| XM_005249493.3 |
6227 |
Silent Mutation |
ACC,ACT |
T2087T |
XP_005249550.1 |
| XM_005249494.4 |
6227 |
Silent Mutation |
ACC,ACT |
T2067T |
XP_005249551.1 |
| XM_005249497.3 |
6227 |
Silent Mutation |
ACC,ACT |
T1898T |
XP_005249554.1 |
| XM_005249498.3 |
6227 |
Silent Mutation |
ACC,ACT |
T1824T |
XP_005249555.1 |
| XM_011515001.2 |
6227 |
Silent Mutation |
ACC,ACT |
T2067T |
XP_011513303.1 |
| XM_011515003.2 |
6227 |
Silent Mutation |
ACC,ACT |
T2067T |
XP_011513305.1 |
| XM_011515004.2 |
6227 |
Silent Mutation |
ACC,ACT |
T1939T |
XP_011513306.1 |
| XM_017011519.1 |
6227 |
Silent Mutation |
ACC,ACT |
T2067T |
XP_016867008.1 |
| XM_017011520.1 |
6227 |
Silent Mutation |
ACC,ACT |
T2066T |
XP_016867009.1 |
| XM_017011521.1 |
6227 |
Silent Mutation |
ACC,ACT |
T1877T |
XP_016867010.1 |
| XM_017011522.1 |
6227 |
Silent Mutation |
ACC,ACT |
T1823T |
XP_016867011.1 |
- Gene
- MDC1-AS1
- Gene Name
- MDC1 antisense RNA 1
There are no transcripts associated with this gene.
- Gene
- NRM
- Gene Name
- nurim (nuclear envelope membrane protein)
There are no transcripts associated with this gene.
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